Skip Navigation
Genetics Home Reference: your guide to understanding genetic conditions
http://ghr.nlm.nih.gov/     A service of the U.S. National Library of Medicine®

Chromosome 7

Reviewed April 2008

What is chromosome 7?

Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 7, one copy inherited from each parent, form one of the pairs. Chromosome 7 spans about 159 million DNA building blocks (base pairs) and represents more than 5 percent of the total DNA in cells.

Identifying genes on each chromosome is an active area of genetic research. Because researchers use different approaches to predict the number of genes on each chromosome, the estimated number of genes varies. Chromosome 7 likely contains 900 to 1,000 genes that provide instructions for making proteins. These proteins perform a variety of different roles in the body.

Genes on chromosome 7 are among the estimated 20,000 to 25,000 total genes in the human genome.

Genetics Home Reference includes these genes on chromosome 7:

  • AASS
  • ABCB4
  • ACTB
  • ASL
  • ATP6V0A4
  • BRAF
  • CCM2
  • CFTR
  • CLCN1
  • CLIP2
  • COG5
  • COL1A2
  • DDC
  • DFNA5
  • DLD
  • ELN
  • EZH2
  • FAM126A
  • GARS
  • GHRHR
  • GLI3
  • GTF2I
  • GTF2IRD1
  • GUSB
  • HOXA13
  • HSPB1
  • IRF5
  • ISPD
  • KCNH2
  • KRIT1
  • LEP
  • LFNG
  • LIMK1
  • MPLKIP
  • NCF1
  • OPN1SW
  • PEX1
  • PGAM2
  • PMS2
  • POR
  • PRKAG2
  • PRSS1
  • RELN
  • SBDS
  • SGCE
  • SHH
  • SLC25A13
  • SLC26A4
  • TBXAS1
  • TFR2
  • TWIST1

How are changes in chromosome 7 related to health conditions?

Many genetic conditions are related to changes in particular genes on chromosome 7. This list of disorders associated with genes on chromosome 7 provides links to additional information.

Genetics Home Reference includes these conditions related to genes on chromosome 7:

  • argininosuccinic aciduria
  • aromatic l-amino acid decarboxylase deficiency
  • Baraitser-Winter syndrome
  • cardiofaciocutaneous syndrome
  • cerebral cavernous malformation
  • Charcot-Marie-Tooth disease
  • chronic granulomatous disease
  • citrullinemia
  • coloboma
  • color vision deficiency
  • congenital bilateral absence of the vas deferens
  • congenital disorder of glycosylation type IIi
  • congenital leptin deficiency
  • cutis laxa
  • cystic fibrosis
  • cytochrome P450 oxidoreductase deficiency
  • dihydrolipoamide dehydrogenase deficiency
  • distal hereditary motor neuropathy, type II
  • distal hereditary motor neuropathy, type V
  • Ehlers-Danlos syndrome
  • familial hypertrophic cardiomyopathy
  • gastrointestinal stromal tumor
  • Ghosal hematodiaphyseal dysplasia
  • Greig cephalopolysyndactyly syndrome
  • hand-foot-genital syndrome
  • hemochromatosis
  • hereditary pancreatitis
  • hyperlysinemia
  • hypomyelination and congenital cataract
  • intrahepatic cholestasis of pregnancy
  • isolated growth hormone deficiency
  • Langerhans cell histiocytosis
  • lissencephaly with cerebellar hypoplasia
  • Lynch syndrome
  • microphthalmia
  • mucopolysaccharidosis type VII
  • multiple lentigines syndrome
  • myoclonus-dystonia
  • myotonia congenita
  • nonsyndromic deafness
  • nonsyndromic holoprosencephaly
  • Noonan syndrome
  • osteogenesis imperfecta
  • Pallister-Hall syndrome
  • Pendred syndrome
  • phosphoglycerate mutase deficiency
  • progressive familial intrahepatic cholestasis
  • renal tubular acidosis with deafness
  • rheumatoid arthritis
  • Romano-Ward syndrome
  • Saethre-Chotzen syndrome
  • short QT syndrome
  • Shwachman-Diamond syndrome
  • spondylocostal dysostosis
  • supravalvular aortic stenosis
  • systemic lupus erythematosus
  • systemic scleroderma
  • trichothiodystrophy
  • Walker-Warburg syndrome
  • Weaver syndrome
  • Williams syndrome
  • Wolff-Parkinson-White syndrome
  • Zellweger spectrum

Changes in the structure or number of copies of a chromosome can also cause problems with health and development. The following chromosomal conditions are associated with such changes in chromosome 7.

cancers

Changes in the number or structure of chromosome 7 occur frequently in human cancers. These changes are typically somatic, which means they are acquired during a person's lifetime and are present only in tumor cells. Many forms of cancer are associated with damage to chromosome 7. In particular, changes in this chromosome have been identified in cancers of blood-forming tissue (leukemias) and cancers of immune system cells (lymphomas). A loss of part or all of one copy of chromosome 7 is common in myelodysplastic syndrome, which is a disease of the blood and bone marrow. People with this disorder have an increased risk of developing leukemia.

Studies suggest that some genes on chromosome 7 may play critical roles in controlling the growth and division of cells. Without these genes, cells could grow and divide too quickly or in an uncontrolled way, resulting in a cancerous tumor. Researchers are working to identify the genes on chromosome 7 that are involved in the development and progression of cancer.

Greig cephalopolysyndactyly syndrome

Abnormalities of chromosome 7 are responsible for some cases of Greig cephalopolysyndactyly syndrome. These chromosomal changes involve a region of the short (p) arm of chromosome 7 that contains the GLI3 gene. This gene plays an important role in the development of many tissues and organs before birth.

In some cases, Greig cephalopolysyndactyly syndrome results from a rearrangement (translocation) of genetic material between chromosome 7 and another chromosome. Other cases are caused by the deletion of several genes, including GLI3, from the short arm of chromosome 7. The loss of multiple genes can cause a more severe form of this disorder called Greig cephalopolysyndactyly contiguous gene deletion syndrome. People with this form of the disorder have characteristic developmental problems involving the limbs, head, and face along with seizures, developmental delay, and intellectual disability.

Russell-Silver syndrome

People normally inherit one copy of each chromosome from their mother and one copy from their father. For most genes, both copies are expressed, or "turned on," in cells. For some genes, however, only the copy inherited from a person's father (the paternal copy) is expressed. For other genes, only the copy inherited from a person's mother (the maternal copy) is expressed. These parent-specific differences in gene expression are caused by a phenomenon called genomic imprinting. Chromosome 7 contains a group of genes that normally undergo genomic imprinting. Abnormalities involving these genes appear to be responsible for many cases of Russell-Silver syndrome.

In 7 percent to 10 percent of cases of Russell-Silver syndrome, people inherit both copies of chromosome 7 from their mother instead of one copy from each parent. This phenomenon is called maternal uniparental disomy (UPD). Maternal UPD causes people to have two active copies of maternally expressed imprinted genes rather than one active copy from the mother and one inactive copy from the father. These individuals do not have a paternal copy of chromosome 7 and therefore do not have any copies of genes that are active only on the paternal copy. In cases of Russell-Silver syndrome caused by maternal UPD, an imbalance in active paternal and maternal genes on chromosome 7 underlies the signs and symptoms of the disorder.

Saethre-Chotzen syndrome

Some cases of Saethre-Chotzen syndrome result from abnormalities of chromosome 7. These chromosomal changes involve a region of the short (p) arm of chromosome 7 that contains the TWIST1 gene. This gene plays an important role in early development of the head, face, and limbs.

The chromosome abnormalities responsible for Saethre-Chotzen syndrome include translocations of genetic material between chromosome 7 and another chromosome, a rearrangement of genetic material within chromosome 7 (an inversion), or the formation of an abnormal circular structure called a ring chromosome 7. Each of these chromosomal changes alters or deletes the TWIST1 gene and may also affect nearby genes.

When Saethre-Chotzen syndrome is caused by a chromosomal deletion instead of a mutation within the TWIST1 gene, affected children are much more likely to have intellectual disability, developmental delay, and learning difficulties. These features are typically not seen in classic cases of Saethre-Chotzen syndrome. Researchers believe that a loss of other genes on the short arm of chromosome 7 may be responsible for these additional features.

Williams syndrome

Williams syndrome is caused by the deletion of genetic material from a portion of the long (q) arm of chromosome 7. The deleted region, which is located at position 11.23 (written as 7q11.23), is designated the Williams-Beuren region. This region includes more than 25 genes, and researchers believe that the characteristic features of Williams syndrome are probably related to the loss of several of these genes.

While a few of the specific genes related to Williams syndrome have been identified, the relationship between most of the genes in the deleted region and the signs and symptoms of Williams syndrome is unknown.

other chromosomal conditions

Whereas Williams syndrome is caused by a deletion of genes in the Williams-Beuren region of chromosome 7, another syndrome is caused by the abnormal duplication (copying) of genes in this region. This duplication appears to be associated with delayed expressive language skills (vocabulary and the production of speech) and delayed development. Very few people with a duplication of the Williams-Beuren region have been identified.

Other changes in the number or structure of chromosome 7 can cause delayed growth and development, intellectual disability, distinctive facial features, skeletal abnormalities, delayed speech, and other medical problems. Changes in chromosome 7 include an extra copy of some genetic material from this chromosome in each cell (partial trisomy 7) or a missing segment of the chromosome in each cell (partial monosomy 7). In some cases, several DNA building blocks (nucleotides) are abnormally deleted or duplicated in part of chromosome 7. A circular structure called ring chromosome 7 is also possible. Ring chromosomes occur when a chromosome breaks in two places and the ends of the chromosome arms fuse together to form a circular structure.

Is there a standard way to diagram chromosome 7?

Geneticists use diagrams called ideograms as a standard representation for chromosomes. Ideograms show a chromosome's relative size and its banding pattern. A banding pattern is the characteristic pattern of dark and light bands that appears when a chromosome is stained with a chemical solution and then viewed under a microscope. These bands are used to describe the location of genes on each chromosome.

Ideogram of chromosome 7
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about chromosome 7?

You may find the following resources about chromosome 7 helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What glossary definitions help with understanding chromosome 7?

bone marrow ; cancer ; cell ; chromosome ; contiguous ; contiguous gene deletion syndrome ; critical region ; deletion ; developmental delay ; disability ; DNA ; duplication ; expressed ; gene ; gene deletion ; gene expression ; immune system ; imprinting ; inherit ; inherited ; inversion ; leukemia ; maternal ; monosomy ; mutation ; myelodysplastic syndrome ; progression ; rearrangement ; ring chromosomes ; syndrome ; tissue ; translocation ; trisomy ; tumor ; uniparental disomy

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Abu-Amero S, Monk D, Frost J, Preece M, Stanier P, Moore GE. The genetic aetiology of Silver-Russell syndrome. J Med Genet. 2008 Apr;45(4):193-9. Epub 2007 Dec 21. Review. (http://www.ncbi.nlm.nih.gov/pubmed/18156438?dopt=Abstract)
  • Berg JS, Brunetti-Pierri N, Peters SU, Kang SH, Fong CT, Salamone J, Freedenberg D, Hannig VL, Prock LA, Miller DT, Raffalli P, Harris DJ, Erickson RP, Cunniff C, Clark GD, Blazo MA, Peiffer DA, Gunderson KL, Sahoo T, Patel A, Lupski JR, Beaudet AL, Cheung SW. Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region. Genet Med. 2007 Jul;9(7):427-41. (http://www.ncbi.nlm.nih.gov/pubmed/17666889?dopt=Abstract)
  • Cai J, Goodman BK, Patel AS, Mulliken JB, Van Maldergem L, Hoganson GE, Paznekas WA, Ben-Neriah Z, Sheffer R, Cunningham ML, Daentl DL, Jabs EW. Increased risk for developmental delay in Saethre-Chotzen syndrome is associated with TWIST deletions: an improved strategy for TWIST mutation screening. Hum Genet. 2003 Dec;114(1):68-76. Epub 2003 Sep 25. (http://www.ncbi.nlm.nih.gov/pubmed/14513358?dopt=Abstract)
  • Ensembl Human Map View: Chromosome 7 (http://www.ensembl.org/Homo_sapiens/Location/Chromosome?chr=7;r=7:1-159138663)
  • Gilbert F. Chromosome 7. Genet Test. 2002 Summer;6(2):141-61. (http://www.ncbi.nlm.nih.gov/pubmed/12215256?dopt=Abstract)
  • Hasle H, Olsen JH, Hansen J, Friedrich U, Tommerup N. Occurrence of cancer in a cohort of 183 persons with constitutional chromosome 7 abnormalities. Cancer Genet Cytogenet. 1998 Aug;105(1):39-42. Review. (http://www.ncbi.nlm.nih.gov/pubmed/9689928?dopt=Abstract)
  • Hillier LW, Fulton RS, Fulton LA, Graves TA, Pepin KH, Wagner-McPherson C, Layman D, Maas J, Jaeger S, Walker R, Wylie K, Sekhon M, Becker MC, O'Laughlin MD, Schaller ME, Fewell GA, Delehaunty KD, Miner TL, Nash WE, Cordes M, Du H, Sun H, Edwards J, Bradshaw-Cordum H, Ali J, Andrews S, Isak A, Vanbrunt A, Nguyen C, Du F, Lamar B, Courtney L, Kalicki J, Ozersky P, Bielicki L, Scott K, Holmes A, Harkins R, Harris A, Strong CM, Hou S, Tomlinson C, Dauphin-Kohlberg S, Kozlowicz-Reilly A, Leonard S, Rohlfing T, Rock SM, Tin-Wollam AM, Abbott A, Minx P, Maupin R, Strowmatt C, Latreille P, Miller N, Johnson D, Murray J, Woessner JP, Wendl MC, Yang SP, Schultz BR, Wallis JW, Spieth J, Bieri TA, Nelson JO, Berkowicz N, Wohldmann PE, Cook LL, Hickenbotham MT, Eldred J, Williams D, Bedell JA, Mardis ER, Clifton SW, Chissoe SL, Marra MA, Raymond C, Haugen E, Gillett W, Zhou Y, James R, Phelps K, Iadanoto S, Bubb K, Simms E, Levy R, Clendenning J, Kaul R, Kent WJ, Furey TS, Baertsch RA, Brent MR, Keibler E, Flicek P, Bork P, Suyama M, Bailey JA, Portnoy ME, Torrents D, Chinwalla AT, Gish WR, Eddy SR, McPherson JD, Olson MV, Eichler EE, Green ED, Waterston RH, Wilson RK. The DNA sequence of human chromosome 7. Nature. 2003 Jul 10;424(6945):157-64. (http://www.ncbi.nlm.nih.gov/pubmed/12853948?dopt=Abstract)
  • Johnston JJ, Olivos-Glander I, Turner J, Aleck K, Bird LM, Mehta L, Schimke RN, Heilstedt H, Spence JE, Blancato J, Biesecker LG. Clinical and molecular delineation of the Greig cephalopolysyndactyly contiguous gene deletion syndrome and its distinction from acrocallosal syndrome. Am J Med Genet A. 2003 Dec 15;123A(3):236-42. (http://www.ncbi.nlm.nih.gov/pubmed/14608643?dopt=Abstract)
  • Kroisel PM, Petek E, Wagner K. Phenotype of five patients with Greig syndrome and microdeletion of 7p13. Am J Med Genet. 2001 Aug 15;102(3):243-9. (http://www.ncbi.nlm.nih.gov/pubmed/11484201?dopt=Abstract)
  • Le Beau MM, Espinosa R 3rd, Davis EM, Eisenbart JD, Larson RA, Green ED. Cytogenetic and molecular delineation of a region of chromosome 7 commonly deleted in malignant myeloid diseases. Blood. 1996 Sep 15;88(6):1930-5. (http://www.ncbi.nlm.nih.gov/pubmed/8822909?dopt=Abstract)
  • Lichtenbelt KD, Hochstenbach R, van Dam WM, Eleveld MJ, Poot M, Beemer FA. Supernumerary ring chromosome 7 mosaicism: case report, investigation of the gene content, and delineation of the phenotype. Am J Med Genet A. 2005 Jan 1;132A(1):93-100. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15580634?dopt=Abstract)
  • Map Viewer: Genes on Sequence (http://www.ncbi.nlm.nih.gov/mapview/maps.cgi?ORG=human&MAPS=ideogr,ugHs,genes&CHR=7)
  • Orellana C, Bernabeu J, Monfort S, Roselló M, Oltra S, Ferrer I, Quiroga R, Martínez-Garay I, Martínez F. Duplication of the Williams-Beuren critical region: case report and further delineation of the phenotypic spectrum. J Med Genet. 2008 Mar;45(3):187-9. doi: 10.1136/jmg.2007.054064. (http://www.ncbi.nlm.nih.gov/pubmed/18310268?dopt=Abstract)
  • Osborne LR, Mervis CB. Rearrangements of the Williams-Beuren syndrome locus: molecular basis and implications for speech and language development. Expert Rev Mol Med. 2007 Jun 13;9(15):1-16. Review. (http://www.ncbi.nlm.nih.gov/pubmed/17565757?dopt=Abstract)
  • Rodríguez L, López F, Paisán L, de la Red Mdel M, Ruiz AM, Blanco M, Antelo Cortizas J, Martínez-Frías ML. Pure partial trisomy 7q: two new patients and review. Am J Med Genet. 2002 Nov 22;113(2):218-24. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12407716?dopt=Abstract)
  • Scherer SW, Cheung J, MacDonald JR, Osborne LR, Nakabayashi K, Herbrick JA, Carson AR, Parker-Katiraee L, Skaug J, Khaja R, Zhang J, Hudek AK, Li M, Haddad M, Duggan GE, Fernandez BA, Kanematsu E, Gentles S, Christopoulos CC, Choufani S, Kwasnicka D, Zheng XH, Lai Z, Nusskern D, Zhang Q, Gu Z, Lu F, Zeesman S, Nowaczyk MJ, Teshima I, Chitayat D, Shuman C, Weksberg R, Zackai EH, Grebe TA, Cox SR, Kirkpatrick SJ, Rahman N, Friedman JM, Heng HH, Pelicci PG, Lo-Coco F, Belloni E, Shaffer LG, Pober B, Morton CC, Gusella JF, Bruns GA, Korf BR, Quade BJ, Ligon AH, Ferguson H, Higgins AW, Leach NT, Herrick SR, Lemyre E, Farra CG, Kim HG, Summers AM, Gripp KW, Roberts W, Szatmari P, Winsor EJ, Grzeschik KH, Teebi A, Minassian BA, Kere J, Armengol L, Pujana MA, Estivill X, Wilson MD, Koop BF, Tosi S, Moore GE, Boright AP, Zlotorynski E, Kerem B, Kroisel PM, Petek E, Oscier DG, Mould SJ, Döhner H, Döhner K, Rommens JM, Vincent JB, Venter JC, Li PW, Mural RJ, Adams MD, Tsui LC. Human chromosome 7: DNA sequence and biology. Science. 2003 May 2;300(5620):767-72. Epub 2003 Apr 10. (http://www.ncbi.nlm.nih.gov/pubmed/12690205?dopt=Abstract)
  • Somerville MJ, Mervis CB, Young EJ, Seo EJ, del Campo M, Bamforth S, Peregrine E, Loo W, Lilley M, Pérez-Jurado LA, Morris CA, Scherer SW, Osborne LR. Severe expressive-language delay related to duplication of the Williams-Beuren locus. N Engl J Med. 2005 Oct 20;353(16):1694-701. (http://www.ncbi.nlm.nih.gov/pubmed/16236740?dopt=Abstract)
  • UCSC Genome Browser: Statistics (http://genome.cse.ucsc.edu/goldenPath/stats.html)
  • Velagaleti GV, Jalal SM, Kukolich MK, Lockhart LH, Tonk VS. De novo supernumerary ring chromosome 7: first report of a non-mosaic patient and review of the literature. Clin Genet. 2002 Mar;61(3):202-6. Review. (http://www.ncbi.nlm.nih.gov/pubmed/12000362?dopt=Abstract)
  • Zenklusen JC, Conti CJ. Cytogenetic, molecular and functional evidence for novel tumor suppressor genes on the long arm of human chromosome 7. Mol Carcinog. 1996 Mar;15(3):167-75. Review. (http://www.ncbi.nlm.nih.gov/pubmed/8597529?dopt=Abstract)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: April 2008
Published: December 16, 2014